Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic condition which affects the lungs, pancreas, liver, kidneys and intestines. This causes problems with salt and water movement between cells, which causes the normal secretions of the body to become thick and sticky. This condition also causes salty skin, digestion problems, poor growth and difficulty gaining weight. CF cannot be cured and causes a reduced life-span; however, management of the symptoms improves the patient’s quality of life.

Risks

Cystic fibrosis is caused by a genetic mutation, but both parents need to have the gene for a child to be at risk of having cystic fibrosis. Cystic fibrosis is more common in people with northern European heritage. Since CF affects the movement of water and salt between cells, this causes many different complications throughout the body. One important complication is that the normal, healthy mucus in the body becomes thick and clogging, rather than thin and runny. This thick, sticky mucus collects in vital organs such as the lungs, intestines and pancreas, impairing their function.

Symptoms

Although it is a genetic condition, the symptoms of cystic fibrosis usually begin around 6 or 8 months after birth. Newborns with cystic fibrosis may not pass meconium (the first bowel movement) and/or may have long-lasting jaundice. Other symptoms include shortness of breath, coughing and coughing up thick, sticky mucus. People with cystic fibrosis tend to have sweat that is unusually rich in salt, which may be tasted when kissing the child. As children grow older, they develop club-like fingers and toes, and tend to be small for their age. They may also have recurrent chest or sinus infections. Children with cystic fibrosis may suffer from repeated constipation, indigestion or bloating, and produce white, greasy stools.

Diagnosis

In countries where cystic fibrosis is common, newborns are screened (tested regardless of the manifestation of symptoms) for the genetic mutations of cystic fibrosis. The diagnosis is confirmed by testing sweat and by fully investigating the genes for the cystic fibrosis mutation.

Treatment

There is no cure for cystic fibrosis. Treatment aims to manage the symptoms and complications of cystic fibrosis. This involves daily exercises and treatments to remove extra mucus from the lungs, replacing digestive enzymes with are usually released by the pancreas, and supplementing the diet with calories and nutrients, among other measures. A lung transplant may be needed in severe cases. Support groups and counseling may be helpful for the family in coming to terms with the diagnosis.

Prevention

In countries where cystic fibrosis is frequent, infants are screened at birth in order to start management as early as possible.